Identification of missing variants by combining multiple analytic pipelines.
Bmc Bioinformatics
Ren, Yingxue Y; Reddy, Joseph S JS; Pottier, Cyril C; Sarangi, Vivekananda V; Tian, Shulan S; Sinnwell, Jason P JP; McDonnell, Shannon K SK; Biernacka, Joanna M JM; Carrasquillo, Minerva M MM; Ross, Owen A OA; Ertekin-Taner, Nilüfer N; Rademakers, Rosa R; Hudson, Matthew M; Mainzer, Liudmila Sergeevna LS; Asmann, Yan W YW
Evaluating pathogenic dementia variants in posterior cortical atrophy.
Neurobiology Of Aging
Carrasquillo, Minerva M MM; Barber, Imelda I; Lincoln, Sarah J SJ; Murray, Melissa E ME; Camsari, Gamze Balci GB; Khan, Qurat Ul Ain QUA; Nguyen, Thuy T; Ma, Li L; Bisceglio, Gina D GD; Crook, Julia E JE; Younkin, Steven G SG; Dickson, Dennis W DW; Boeve, Bradley F BF; Graff-Radford, Neill R NR; Morgan, Kevin K; Ertekin-Taner, Nilüfer N
C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.
American Journal Of Neurodegenerative Disease
Wojtas, Aleksandra A; Heggeli, Kristin A KA; Finch, Nicole N; Baker, Matt M; Dejesus-Hernandez, Mariely M; Younkin, Steven G SG; Dickson, Dennis W DW; Graff-Radford, Neill R NR; Rademakers, Rosa R
Publication Date: 2012
Variant appearance in text: PSEN1: 653C>T; Pro218Leu